ClinVar Miner

List of variants reported as pathogenic for Glucocorticoid deficiency 1

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000529.2(MC2R):c.221G>T (p.Ser74Ile) rs104894658 0.00033
NM_001379228.1(MRAP):c.3G>A (p.Met1Ile) rs80358231 0.00009
NM_000529.2(MC2R):c.360C>G (p.Ser120Arg) rs104894656 0.00003
NM_000529.2(MC2R):c.382C>T (p.Arg128Cys) rs104894657 0.00002
NM_000529.2(MC2R):c.319G>A (p.Asp107Asn) rs104894661 0.00001
NM_000529.2(MC2R):c.409C>T (p.Arg137Trp) rs104894660 0.00001
NM_001379228.1(MRAP):c.106+1del rs1476574441 0.00001
NM_000529.2(MC2R):c.376G>T (p.Ala126Ser) rs267607231
NM_000529.2(MC2R):c.424G>T (p.Val142Leu) rs199950178
NM_000529.2(MC2R):c.459dup (p.Ile154fs) rs1555619430
NM_000529.2(MC2R):c.560del (p.Val187fs) rs1555619406
NM_000529.2(MC2R):c.601C>T (p.Arg201Ter) rs104894659
NM_000529.2(MC2R):c.652_653insA (p.Ala218fs)
NM_000529.2(MC2R):c.674T>G (p.Leu225Arg) rs1555619377
NM_000529.2(MC2R):c.676G>A (p.Gly226Arg)
NM_000529.2(MC2R):c.681_688dup (p.Phe230fs) rs1567895448
NM_000529.2(MC2R):c.702del (p.Phe235fs) rs1555619372
NM_000529.2(MC2R):c.752G>T (p.Cys251Phe) rs104894662
NM_000529.2(MC2R):c.761A>G (p.Tyr254Cys) rs28940892
NM_001379228.1(MRAP):c.1A>G (p.Met1Val) rs1555897462

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